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Evidence for a Niemann–Pick C (NPC) Gene Family: Identification and Characterization of NPC1L1

✍ Scribed by Joanna P. Davies; Brynn Levy; Yiannis A. Ioannou


Book ID
115615067
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
640 KB
Volume
65
Category
Article
ISSN
0888-7543

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Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o